ArticlePediatric radiology2020
Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?
Article in Pediatric radiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- [Evaluation of inner ear malformation based on high-resolution CT and MRI].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings.Diagnostic and interventional radiology (Ankara, Turkey) · 2022Review
- Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.Ibrain · 2022Review
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- Research progress of the transcription factor Brn4 (Review).Molecular medicine reports · 2021Article
- A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.AJNR. American journal of neuroradiology · 2020Article
- New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review.AJNR. American journal of neuroradiology · 2020Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked stapes gusher syndrome is a genetic form of deafness with distinct radiographic features on temporal bone CT. Hypothalamic hamartoma is a congenital glioneuronal anomaly of the hypothalamus. We report a potential association between these two rare anomalies that, to our knowledge, has not been reported. Two brothers presented with sensorineural hearing loss and almost identical inner ear and hypothalamic abnormalities, consistent with a diagnosis of X-linked stapes gusher syndrome and hypothalamic hamartoma. Genetic testing revealed identical mutations in the POU3F4 gene associated with X-linked stapes gusher syndrome. Furthermore, multiple vestibular diverticula were seen in both brothers, which have also not been reported with X-linked stapes gusher syndrome. This case suggests that POU3F4 mediated X-linked stapes gusher syndrome may also lead to multiple vestibular diverticula and hypothalamic hamartoma and, therefore, brain magnetic resonance imaging (MRI) could be considered in patients presenting with these inner ear findings.
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